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Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation

BACKGROUND: Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental consequences, is a leading cause of neonatal care admission. Hyperinsulinemic hypoglycemia is often resistant to dextrose infusion and needs rapid diagnosis and treatment. Several congenital condition...

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Detalles Bibliográficos
Autores principales:	Piro, Ettore, Schierz, Ingrid Anne Mandy, Antona, Vincenzo, Pappalardo, Maria Pia, Giuffrè, Mario, Serra, Gregorio, Corsello, Giovanni
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7499940/ https://www.ncbi.nlm.nih.gov/pubmed/32948218 http://dx.doi.org/10.1186/s13052-020-00902-8

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